ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825587185
Gene: LCA5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001324902
RCV001830365
ClinVar Variation:
1024688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116241.1:p.His651Arg
CA3900748
NM_001122769.3:c.1952A>G